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Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
HOXD13
Duplication
(inframe_insertion)
Brachydactyly-syndactyly syndrome
+4 more
GPathogenic
HOXD13
(A57V)
Single nucleotide variant
(missense variant)
Brachydactyly type E1
+5 more
GUncertain significance
HOXD13
(A68P)
Single nucleotide variant
(missense variant)
Brachydactyly type D
+5 more
GUncertain significance
HOXD13
(P99R)
Single nucleotide variant
(missense variant)
HOXD13-related condition
+6 more
GUncertain significance
HOXD13
(R274*)
Single nucleotide variant
(nonsense)
Synpolydactyly type 1
+13 more
GPathogenic/Likely pathogenic
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